Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis

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Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis Publisher Pubmed

Biglari S^{1, 2} ; Nikuei P^{3, 4} ; Mir A⁵ ; Vahidnezhad H² ; Youssefian L⁶ ; Moghaddam AS⁷ ; Tabatabaiefar MA¹ ; Saeidian AH^{2, 8} ; Khorram E^{1, 9} ; Fard MAF¹⁰ ; Farbood Z¹¹ ; Shahrooei M^{12, 13} ; Khorshid HRK¹⁴ ; Esmaeilzadeh E¹⁵

Show Affiliations

1. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
3. Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
4. Dr.Nikuei Genetic Center, Bandar Abbas, Iran
5. Department of Genetics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
6. Department of Pathology, Cytogenetics Laboratory, City of Hope National Medical Center, Irwindale, CA, United States
7. Department of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran
8. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States
9. Applied Physiology Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
10. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran
11. Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran
12. Dr. Shahrooei Laboratory, Tehran, Iran
13. Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium
14. Genetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran
15. Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran

Source: Clinical Genetics Published:2025

Abstract

Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.219T>A (p.Tyr73*) and c.205-1G>C. the first one (c.219T>A) related to potentially founder effects within regions of homozygosity. Clinical outcomes varied among patients based on vitamin E therapy initiation, with early treatment preventing severe neurological impairment. These findings improve knowledge of TTPA variants, supporting targeted genetic-based therapy. This study emphasizes the importance of genetic screening in consanguineous communities for the early detection and management of Mendelian diseases, with additional implications for managing rare genetic disorders generally. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Style	Citing Format
MLA	Biglari S, et al.. "Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis." Clinical Genetics, vol. 107, no. 3, 2025, pp. 366-368.
APA	Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, Saeidian AH, Khorram E, Fard MAF, Farbood Z, Shahrooei M, Khorshid HRK, Esmaeilzadeh E (2025). Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis. Clinical Genetics, 107(3), 366-368.
Chicago	Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, et al.. "Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis." Clinical Genetics 107, no. 3 (2025): 366-368.
Harvard	Biglari S et al. (2025) 'Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis', Clinical Genetics, 107(3), pp. 366-368.
Vancouver	Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, et al.. Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis. Clinical Genetics. 2025;107(3):366-368.
BibTex	@article{ author = {Biglari S and Nikuei P and Mir A and Vahidnezhad H and Youssefian L and Moghaddam AS and Tabatabaiefar MA and Saeidian AH and Khorram E and Fard MAF and Farbood Z and Shahrooei M and Khorshid HRK and Esmaeilzadeh E}, title = {Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis}, journal = {Clinical Genetics}, volume = {107}, number = {3}, pages = {366-368}, year = {2025} }
RIS	TY - JOUR AU - Biglari S AU - Nikuei P AU - Mir A AU - Vahidnezhad H AU - Youssefian L AU - Moghaddam AS AU - Tabatabaiefar MA AU - Saeidian AH AU - Khorram E AU - Fard MAF AU - Farbood Z AU - Shahrooei M AU - Khorshid HRK AU - Esmaeilzadeh E TI - Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and in Silico Analysis JO - Clinical Genetics VL - 107 IS - 3 SP - 366 EP - 368 PY - 2025 ER -

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